Variant report

Variant	rs1440994
Chromosome Location	chr9:21801319-21801320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:21801032-21804663	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:21334810..21337205-chr9:21800546..21802816,2	MCF-7	breast:
2	chr9:21464451..21467378-chr9:21800569..21802345,2	MCF-7	breast:
3	chr9:21796497..21798731-chr9:21800652..21802433,2	MCF-7	breast:
4	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264545	TF binding region
MTAP	TF binding region
ENSG00000198642	Chromatin interaction
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10123410	1.00[MEX][hapmap]
rs10123713	1.00[MEX][hapmap]
rs58005508	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59397155	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59828051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60465887	1.00[EUR][1000 genomes]
rs7027003	1.00[EUR][1000 genomes]
rs7041147	1.00[ASW][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7041757	1.00[EUR][1000 genomes]
rs73429337	1.00[EUR][1000 genomes]
rs73429360	1.00[EUR][1000 genomes]
rs73429364	1.00[EUR][1000 genomes]
rs73649991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1026981	chr9:21748202-21811697	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21797800-21801400	Weak transcription	A549	lung
2	chr9:21798000-21801600	Weak transcription	Aorta	Aorta
3	chr9:21800000-21801800	Enhancers	Placenta	Placenta
4	chr9:21800600-21801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:21801000-21801400	Enhancers	Osteobl	bone
6	chr9:21801000-21801600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:21801000-21801600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:21801000-21801800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:21801000-21802000	Enhancers	Spleen	Spleen
10	chr9:21801000-21803400	Active TSS	Stomach Smooth Muscle	stomach
11	chr9:21801200-21801400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:21801200-21801400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
13	chr9:21801200-21801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:21801200-21801400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:21801200-21801400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:21801200-21801400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:21801200-21801400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:21801200-21801400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr9:21801200-21801400	Enhancers	Dnd41	blood
20	chr9:21801200-21801400	Enhancers	NHLF	lung
21	chr9:21801200-21801600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:21801200-21801600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:21801200-21801800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:21801200-21801800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr9:21801200-21801800	Enhancers	Primary B cells from peripheral blood	blood
26	chr9:21801200-21801800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr9:21801200-21802000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr9:21801200-21802000	Flanking Active TSS	HMEC	breast
29	chr9:21801200-21802000	Flanking Active TSS	NHEK	skin

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